Content Analysis of Informed Consent for Whole Genome Sequencing Offered by Direct‐to‐Consumer Genetic Testing Companies. Issue 12 (5th October 2016)

• Record Type: Journal Article
• Authors: Niemiec, Emilia; Borry, Pascal; Pinxten, Wim; Howard, Heidi Carmen
• Is Part Of: Human mutation. Volume 37:Issue 12(2016)
• Page Start: 1248
• Page End: 1256
• Publication Date: 2016-10-05
• Subjects: whole genome sequencing -- whole exome sequencing -- direct‐to‐consumer genetic testing -- consumer genomics -- informed consent; Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.23122
• Languages: English
• ISSNs: 1059-7794

Abstract

Abstract : WGS can be purchased from commercial companies advertising directly to consumers on the Internet. When purchasing such tests, consumers agree to documents which may not provide adequate information for informed consent as outlined in guidelines for clinical WGS. Among others, issues such as pre‐test counselling, the explanation of benefits and risks, as well as the management of incidental findings should be properly addressed during the consent process. ABSTRACT: Whole exome sequencing (WES) and whole genome sequencing (WGS) have become increasingly available in the research and clinical settings and are now also being offered by direct‐to‐consumer (DTC) genetic testing (GT) companies. This offer can be perceived as amplifying the already identified concerns regarding adequacy of informed consent (IC) for both WES/WGS and the DTC GT context. We performed a qualitative content analysis of Websites of four companies offering WES/WGS DTC regarding the following elements of IC: pre‐test counseling, benefits and risks, and incidental findings (IFs). The analysis revealed concerns, including the potential lack of pre‐test counseling in three of the companies studied, missing relevant information in the risks and benefits sections, and potentially misleading information for consumers. Regarding IFs, only one company, which provides opportunistic screening, provides basic information about their management. In conclusion, some of the information (and related practices) present on the companies' Web pages salient to the consent process are not adequate in reference to recommendations for IC for WGS or WES in the clinical context. Requisite resources should be allocated to ensure that commercial companies are offering high‐throughput sequencing under responsible conditions, including an adequate consent process.